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Lactic acidemia and mitochondrial disease.

Brian H Robinson1

  • 1Metabolism Research Programme, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada M5G 1X8. bhr@sickkids.ca <bhr@sickkids.ca>

Molecular Genetics and Metabolism
|July 21, 2006
PubMed
Summary

Lactic acidemia, common in mitochondrial and gluconeogenesis disorders, can be diagnosed using lactate/pyruvate ratios. This review classifies mitochondrial diseases by genetic cause and clinical presentation.

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Area of Science:

  • Biochemistry
  • Genetics
  • Mitochondrial Medicine

Background:

  • Lactic acidemia is a key indicator in mitochondrial oxidative defects and gluconeogenesis disorders.
  • Cellular redox state significantly influences lactate/pyruvate ratios, impacting metabolic diagnostics.
  • Mitochondrial disorders stem from nuclear or mitochondrial DNA (mtDNA) gene defects affecting cellular respiration.

Purpose of the Study:

  • To review the classification of mitochondrial diseases.
  • To integrate genetic, biochemical, and clinical phenotypic data for classification.
  • To explore diagnostic algorithms based on lactic acid metabolism.

Main Methods:

  • Review of current literature on lactic acid metabolism and mitochondrial diseases.
  • Analysis of genetic and biochemical etiologies of mitochondrial disorders.

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  • Correlation of clinical phenotypes with genetic and biochemical findings.

    • Main Results:

    • Lactic acidemia is prevalent in mitochondrial and gluconeogenesis disorders.
    • Lactate/pyruvate ratios provide insights into cellular redox state and disease mechanisms.
    • Mitochondrial diseases exhibit diverse genetic origins (nuclear/mtDNA) and clinical expressions.

    Conclusions:

    • Understanding lactic acid dynamics aids in developing diagnostic algorithms for metabolic disorders.
    • A comprehensive classification of mitochondrial diseases requires integrating genetic, biochemical, and clinical data.
    • Phenotypic diversity in mitochondrial disorders necessitates a multifaceted diagnostic approach.